Incidental Mutation 'IGL02066:Cox4i2'
ID 185639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox4i2
Ensembl Gene ENSMUSG00000009876
Gene Name cytochrome c oxidase subunit 4I2
Synonyms Cox IV-2, Cox4b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.157) question?
Stock # IGL02066
Quality Score
Status
Chromosome 2
Chromosomal Location 152596093-152606957 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 152602602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 99 (R99C)
Ref Sequence ENSEMBL: ENSMUSP00000105446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010020] [ENSMUST00000109821]
AlphaFold Q91W29
Predicted Effect probably damaging
Transcript: ENSMUST00000010020
AA Change: R99C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000010020
Gene: ENSMUSG00000009876
AA Change: R99C

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:COX4 30 171 4.1e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109821
AA Change: R99C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105446
Gene: ENSMUSG00000009876
AA Change: R99C

DomainStartEndE-ValueType
low complexity region 12 22 N/A INTRINSIC
Pfam:COX4 32 171 4.2e-55 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may be involved in the regulation and assembly of the complex. This nuclear gene encodes isoform 2 of subunit IV. Isoform 1 of subunit IV is encoded by a different gene, however, the two genes show a similar structural organization. Subunit IV is the largest nuclear encoded subunit which plays a pivotal role in COX regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display lung inflammation and decreased airway responsiveness. Females show decreased lean body mass and improved glucose tolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,626,854 (GRCm39) C569S probably damaging Het
Adck5 T C 15: 76,479,406 (GRCm39) V487A probably damaging Het
Agfg1 A G 1: 82,871,279 (GRCm39) T483A probably damaging Het
Akr1c12 T C 13: 4,326,236 (GRCm39) T82A probably damaging Het
Ano2 T A 6: 125,667,702 (GRCm39) L6Q probably benign Het
Anp32a G A 9: 62,284,615 (GRCm39) probably benign Het
Bltp2 G A 11: 78,164,058 (GRCm39) R1133H probably damaging Het
Cep250 C A 2: 155,818,441 (GRCm39) A871D probably damaging Het
Chl1 T C 6: 103,675,185 (GRCm39) V624A probably benign Het
Clasp1 G A 1: 118,492,990 (GRCm39) probably null Het
Clca3a2 T G 3: 144,519,216 (GRCm39) D320A probably benign Het
Cnot9 A G 1: 74,566,212 (GRCm39) Q201R possibly damaging Het
Csmd1 A T 8: 15,976,594 (GRCm39) F2875I probably damaging Het
Dpagt1 A G 9: 44,243,203 (GRCm39) Y246C probably damaging Het
Dsc1 A G 18: 20,241,860 (GRCm39) probably benign Het
Eef1d G A 15: 75,768,704 (GRCm39) T464I probably benign Het
Efna2 C T 10: 80,024,500 (GRCm39) probably benign Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Etaa1 C A 11: 17,896,687 (GRCm39) V477L probably benign Het
Fam83d C T 2: 158,627,793 (GRCm39) T494M probably benign Het
Fbxo24 C T 5: 137,611,132 (GRCm39) V553M probably damaging Het
Gal3st2 A G 1: 93,801,379 (GRCm39) T12A probably damaging Het
Gba2 G A 4: 43,570,175 (GRCm39) T373I probably benign Het
Kitl T A 10: 99,912,744 (GRCm39) C154S probably damaging Het
Lrp1b A T 2: 41,001,091 (GRCm39) C2044* probably null Het
Lrp6 G T 6: 134,427,900 (GRCm39) S1564* probably null Het
Manea A T 4: 26,340,965 (GRCm39) probably benign Het
Myt1 T C 2: 181,438,982 (GRCm39) L168P probably damaging Het
Notch1 T C 2: 26,350,408 (GRCm39) E2244G possibly damaging Het
Nsd3 T G 8: 26,203,515 (GRCm39) V1343G probably damaging Het
Nup155 T C 15: 8,187,250 (GRCm39) probably benign Het
Obox6 T C 7: 15,568,628 (GRCm39) I83V probably benign Het
Or12k5 A T 2: 36,895,321 (GRCm39) F102I probably damaging Het
Or13a24 A T 7: 140,154,413 (GRCm39) T116S possibly damaging Het
Pdgfra T C 5: 75,331,241 (GRCm39) V282A possibly damaging Het
Pkd1l2 A G 8: 117,736,303 (GRCm39) probably benign Het
Pmfbp1 A T 8: 110,268,365 (GRCm39) I971F possibly damaging Het
Ppp6c T C 2: 39,089,683 (GRCm39) T199A probably benign Het
Ptpra A G 2: 30,333,308 (GRCm39) T3A possibly damaging Het
Rb1 A T 14: 73,435,974 (GRCm39) M897K probably benign Het
Rptn A C 3: 93,304,436 (GRCm39) S590R probably benign Het
Rreb1 A G 13: 38,115,482 (GRCm39) D947G probably benign Het
Samd9l T C 6: 3,376,575 (GRCm39) T229A probably damaging Het
Slc5a9 A T 4: 111,744,719 (GRCm39) M423K probably damaging Het
Slc6a12 T A 6: 121,329,015 (GRCm39) I111N probably damaging Het
Slc6a15 T A 10: 103,252,519 (GRCm39) L561I probably damaging Het
Spag5 A G 11: 78,195,358 (GRCm39) N222D probably benign Het
Spp2 G A 1: 88,344,965 (GRCm39) M54I probably benign Het
Sptbn4 T C 7: 27,063,940 (GRCm39) E847G possibly damaging Het
Timd2 T A 11: 46,569,050 (GRCm39) N203Y probably damaging Het
Togaram1 G T 12: 65,030,195 (GRCm39) D1000Y probably damaging Het
Usp47 C T 7: 111,663,604 (GRCm39) R258C probably damaging Het
Uts2r A C 11: 121,051,523 (GRCm39) D129A probably damaging Het
Vmn2r102 G A 17: 19,914,191 (GRCm39) M585I probably benign Het
Vmn2r77 A T 7: 86,452,836 (GRCm39) R518* probably null Het
Wdfy4 C T 14: 32,871,523 (GRCm39) R296K probably benign Het
Xirp2 A T 2: 67,356,415 (GRCm39) K3725N probably benign Het
Xntrpc T C 7: 101,727,036 (GRCm39) S142P probably benign Het
Zfat T C 15: 68,052,678 (GRCm39) H372R probably damaging Het
Other mutations in Cox4i2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Cox4i2 APN 2 152,598,956 (GRCm39) missense probably damaging 1.00
R5548:Cox4i2 UTSW 2 152,599,011 (GRCm39) missense possibly damaging 0.77
R5782:Cox4i2 UTSW 2 152,606,731 (GRCm39) missense probably damaging 1.00
R6922:Cox4i2 UTSW 2 152,599,015 (GRCm39) missense probably benign 0.01
R7072:Cox4i2 UTSW 2 152,602,573 (GRCm39) missense probably damaging 1.00
R7204:Cox4i2 UTSW 2 152,602,618 (GRCm39) frame shift probably null
R9669:Cox4i2 UTSW 2 152,602,610 (GRCm39) missense probably damaging 0.99
R9670:Cox4i2 UTSW 2 152,602,610 (GRCm39) missense probably damaging 0.99
Posted On 2014-05-07